Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Edmund J. Ladusans"'
Autor:
Janet Williams, Amanda G. Wood, Adam Jackson, Robert W.M. Walker, Neelo Aslam, John Dean, Myfanwy Rawson, Latha Hackett, Iain A. Bruce, Peter D. Turnpenny, Rebecca Bromley, Ruth Day, Verna Cuthbert, Lena Westbom, Hubert Journel, Jill Clayton-Smith, Gregory James, Sylvie Odent, Edmund J. Ladusans, Jane Ashworth, Gemma Arca Diaz, Sangeet Sidhu, Heli Malm, Daniel Hindley, Catrina Dyer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩
Clayton-Smith, J, Bromley, R, Dean, J, Journel, H, Odent, S, Wood, A, Williams, J, Cuthbert, V, Hackett, L, Aslam, N, Malm, H, James, G, Westbom, L, Day, R, Ladusans, E, Jackson, A, Bruce, I, Walker, R, Sidhu, S, Dyer, C, Ashworth, J, Hindley, D, Diaz, G A, Rawson, M, Turnpenny, P & Jackson, A 2019, ' Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 180 . https://doi.org/10.1186/s13023-019-1064-y
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩
Clayton-Smith, J, Bromley, R, Dean, J, Journel, H, Odent, S, Wood, A, Williams, J, Cuthbert, V, Hackett, L, Aslam, N, Malm, H, James, G, Westbom, L, Day, R, Ladusans, E, Jackson, A, Bruce, I, Walker, R, Sidhu, S, Dyer, C, Ashworth, J, Hindley, D, Diaz, G A, Rawson, M, Turnpenny, P & Jackson, A 2019, ' Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 180 . https://doi.org/10.1186/s13023-019-1064-y
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩
Background A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during preg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8311a1ee18d5d9ee7459b282816b050
http://link.springer.com/article/10.1186/s13023-019-1064-y
http://link.springer.com/article/10.1186/s13023-019-1064-y
Autor:
Christian P. Kratz, Le Bouc Y, Ibrahim A, Jennifer M. Kalish, Tatton-Brown, Frédéric Brioude, Sylvie Rossignol, Jair Tenorio, Kilby, Giovanni Battista Ferrero, Irène Netchine, De Pellegrin M, Raoul C.M. Hennekam, Silvia Russo, Fiona Macdonald, Trevor Cole, Eamonn R. Maher, Mackay Djg, Karen Grønskov, Edmund J. Ladusans, Khalid Hussain, Licia Peruzzi, Saskia M. Maas, Andrea Riccio, Susanne E Boonen, Monica Bertoletti, Pablo Lapunzina, Zeynep Tümer, oze C, Jet Bliek, Alison Foster, Chiara Tortora, Thomas Eggermann, Guido Cocchi, Caroleen Shipster, Małgorzata Krajewska-Walasek, Dirk Prawitt, Robert Baker, Katrin Õunap, Alessandro Mussa, Agata Skórka
Publikováno v:
Nature reviews. Endocrinology, 14, 229-249. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature reviews. Endocrinology
(2018). doi:10.1038/nrendo.2017.166
info:cnr-pdr/source/autori:Brioude, Frederic; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R/titolo:Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement./doi:10.1038%2Fnrendo.2017.166/rivista:Nature reviews. Endocrinology (Print)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature reviews. Endocrinology
(2018). doi:10.1038/nrendo.2017.166
info:cnr-pdr/source/autori:Brioude, Frederic; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R/titolo:Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement./doi:10.1038%2Fnrendo.2017.166/rivista:Nature reviews. Endocrinology (Print)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c855c5339d282c7473490b0e7bc1e33
https://pure.amc.nl/en/publications/expert-consensus-document-clinical-and-molecular-diagnosis-screening-and-management-of-beckwithwiedemann-syndrome-an-international-consensus-statement(dcb6ec09-907e-4f7b-8fbc-206cacd7382b).html
https://pure.amc.nl/en/publications/expert-consensus-document-clinical-and-molecular-diagnosis-screening-and-management-of-beckwithwiedemann-syndrome-an-international-consensus-statement(dcb6ec09-907e-4f7b-8fbc-206cacd7382b).html
Autor:
Christian P. Kratz, Monica Bertoletti, Jet Bliek, Khalid Hussain, Thomas Eggermann, Trevor Cole, Pablo Lapunzina, Edmund J. Ladusans, Fiona Macdonald, Dirk Prawitt, Guido Cocchi, Giovanni Battista Ferrero, Jennifer M. Kalish, Katrina Tatton-Brown, Katrin Õunap, Sylvie Rossignol, Karen Grønskov, Małgorzata Krajewska-Walasek, Alison Foster, Maurizio De Pellegrin, Irène Netchine, Saskia M. Maas, Robert Baker, Abdulla Ibrahim, Frédéric Brioude, Alessandro Mussa, Zeynep Tümer, Susanne E Boonen, Chiara Tortora, Licia Peruzzi, Agata Skórka, Deborah J G Mackay, Raoul C.M. Hennekam, Jair Tenorio, Yves Le Bouc, Mark D. Kilby, Carole Coze, Silvia Russo, Caroleen Shipster, Andrea Riccio, Eamonn R. Maher
Publikováno v:
Brioude, F, Kalish, J M, Mussa, A, Foster, A C, Bliek, J, Ferrero, G B, Boonen, S E, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, M D, Krajewska-Walasek, M, Kratz, C P, Ladusans, E J, Lapunzina, P, Le Bouc, Y, Maas, S M, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, R C, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, D J G, Riccio, A & Maher, E R 2018, ' Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome : an international consensus statement ', Nature Reviews Endocrinology, vol. 14, pp. 229-249 . https://doi.org/10.1038/nrendo.2017.166
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ccd81d3c3ec7a386b075060c38b821
http://hdl.handle.net/11591/385165
http://hdl.handle.net/11591/385165
Autor:
Vijay Agarwal, Arjamand Shauq, Ajith Karunaratne, Gordon Gladman, Markku Kaarne, Edmund J. Ladusans, Marco Pozzi
Publikováno v:
Heart, Lung and Circulation. 19:460-464
Objective The Blalock–Taussig (BT) shunt is an excellent palliative procedure for cyanotic congenital heart defects. We reviewed two techniques of performing the BT shunt, median sternotomy and thoracotomy, in relation to morbidity and mortality. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1dbc775e21d0a7172fa16d0ece06f46e
https://doi.org/10.1016/j.hlc.2010.02.025
https://doi.org/10.1016/j.hlc.2010.02.025
Autor:
Edmund J. Ladusans
Publikováno v:
Paediatrics and Child Health. 19:30-36
Paediatric cardiac arrythmias commonly occur in the absence of structural heart disease, and are classified according to their cardiac site of origin. Although a detailed history and examination are invaluable, a correct diagnosis cannot be made unle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd231eb5249fd6105a7d752d404c1134
https://doi.org/10.1016/j.paed.2008.10.004
https://doi.org/10.1016/j.paed.2008.10.004
Publikováno v:
The Journal of Thoracic and Cardiovascular Surgery. 134(6):1413-1420
ObjectiveWe sought to compare the efficacy of conventional pulmonary artery banding with that of FloWatch pulmonary artery banding.MethodsForty consecutive infants underwent conventional pulmonary artery banding (n = 20; mean age, 1.8 ± 1.5 months;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25954a076391acf7f86862b4ec3431ee
Autor:
Edmund J. Ladusans, Farida Latif, Eamonn R. Maher, Malgorzata Zatyka, M Priestley, J Mason, Alan Fryer
Publikováno v:
Clinical Genetics. 67:526-528
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6070b35a5a2dd098e919bccb38d8dee3
https://doi.org/10.1111/j.1399-0004.2005.00435.x
https://doi.org/10.1111/j.1399-0004.2005.00435.x
Autor:
Edward Baker, Philip B. Deverall, Edmund J. Ladusans, Gurleen Sharland, Shakeel A. Qureshi, Jonathon M. Parsons, Michael Tynan
Publikováno v:
Cardiology in the Young. 4:255-261
Twenty-six patients requiring palliation for the tetralogy of Fallot were treated by balloon dilation. The mean age at dilation was 8.5 months (range 0.5−20.6) and the mean weight 6.7 kg (range 2.6−10.7). Successful dilation was achieved in 25 pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77f6865a13ded524758fc6a40f1aa758
https://doi.org/10.1017/s104795110001115x
https://doi.org/10.1017/s104795110001115x
Publikováno v:
Cardiology in the young. 19(5)
Pulmonary atresia with intact septum is itself a rare congenital abnormality, albeit known to be associated with other cardiac and non-cardiac anomalies. The combination of right- and left-sided obstructive lesions, however, is extremely rare. We des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d3fd1b7289cb54c89d37e636ff9c02
https://pubmed.ncbi.nlm.nih.gov/19656433
https://pubmed.ncbi.nlm.nih.gov/19656433
Autor:
Arjamand, Shauq, Vijay, Agarwal, Ajith, Karunaratne, Gordon, Gladman, Marco, Pozzi, Markku, Kaarne, Edmund J, Ladusans
Publikováno v:
Heart, lungcirculation. 19(8)
The Blalock-Taussig (BT) shunt is an excellent palliative procedure for cyanotic congenital heart defects. We reviewed two techniques of performing the BT shunt, median sternotomy and thoracotomy, in relation to morbidity and mortality.Forty-five mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::08ff06ab69f66fb9a050e03812261b8f
https://pubmed.ncbi.nlm.nih.gov/20434951
https://pubmed.ncbi.nlm.nih.gov/20434951